1. Name of the genetic disease:
Albinism (aka. Albino)
2. Symptoms of disease:
Has two copies of the defective gene and inherits one defective gene responsible for making the melanin from each parent.
3. When is the disease usually detected... at birth or later in life?:
Detected at birth
4. Frequency of carriers of this disease in the population:
About 1 child out of every 17,000 children are albinistic
5. Frequency of disease in the population:
About 8,500 children
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
Albinoism is recessive, not sex-linked, and non-disjunction
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
Autosomal recessive
8. What chromosome number has been determined to carry this gene?
its found on the on 11- chromosomes
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
Treatment depends on how serious it is. To reduce sunburn they make sure they have to reduce the sun and use heavy sunscreen. And they must wear sunglasses because the light is sensitive to them. Glasses are prescribed to correct vision problems and sometimes even eye surgery.
10. What is the prognosis or outlook for your baby's recovery?
It does not affect the life span, but it may shorten life due to lung problems and bleeding and they may be limited to activity because they can't tolerate the sun.
11. What future techniques might be used to correct or eliminate your baby's disease?
They are not sure
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
They have to keep going to the doctor, make sure they do not get burned from the sun, keep checking their sight,
13. Include diagrams of your child or factors related to your disease.
Albinism
1. Name of the genetic disease:
Albinism (aka. Albino)
2. Symptoms of disease:
Has two copies of the defective gene and inherits one defective gene responsible for making the melanin from each parent.
3. When is the disease usually detected... at birth or later in life?:
Detected at birth
4. Frequency of carriers of this disease in the population:
About 1 child out of every 17,000 children are albinistic
5. Frequency of disease in the population:
About 8,500 children
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
Albinoism is recessive, not sex-linked, and non-disjunction
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
Autosomal recessive
8. What chromosome number has been determined to carry this gene?
its found on the on 11- chromosomes
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
Treatment depends on how serious it is. To reduce sunburn they make sure they have to reduce the sun and use heavy sunscreen. And they must wear sunglasses because the light is sensitive to them. Glasses are prescribed to correct vision problems and sometimes even eye surgery.
10. What is the prognosis or outlook for your baby's recovery?
It does not affect the life span, but it may shorten life due to lung problems and bleeding and they may be limited to activity because they can't tolerate the sun.
11. What future techniques might be used to correct or eliminate your baby's disease?
They are not sure
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
They have to keep going to the doctor, make sure they do not get burned from the sun, keep checking their sight,
13. Include diagrams of your child or factors related to your disease.